Dataset Information


Homo sapiens

ABSTRACT: The Hay Wells Syndrome-Derived TAp63alphaQ540L Mutant Has Impaired Transcriptional and Cell Growth Regulatory Activity

ORGANISM(S): Homo sapiens  



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The Hay Wells syndrome-derived TAp63alphaQ540L mutant has impaired transcriptional and cell growth regulatory activity.

Lo Iacono Marco M   Di Costanzo Antonella A   Calogero Raffaele A RA   Mansueto Gelsomina G   Saviozzi Silvia S   Crispi Stefania S   Pollice Alessandra A   La Mantia Girolama G   Calabrò Viola V  

Cell cycle (Georgetown, Tex.) 20060121 1

p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome, ADULT (acro, dermato, ungual, lacrimal, tooth) syndrome and AEC (ankyloblepharon, ectodermal dysplasia, clefting) syndrome (also called Hay-Wells syndrome). The location and functional effects of the mutations that underlie these syndromes reveal a striking genotype-phenotype correlation. Unlike EEC and ADULT that re  ...[more]

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